title: [Clinical signs of Marfan syndrome in children under 10 years of age].
abstract: Diagnosing Marfan syndrome in young children is difficult because of the great variability of expression of the disease and because the phenotype evolves over the life course. The goal of this retrospective study was to describe the first clinical symptoms in children under 10 years of age with Marfan syndrome and to evaluate the pertinence of the new 2010 Ghent criteria in comparison with the 1996 criteria. Seventeen patients under 10 by the time of the first medical examination were included. All children had an FBN1 gene mutation that was secondarily demonstrated. Clinical data including ophthalmological, cardiac, and orthopaedic examinations obtained during the first medical examination were analyzed. The most frequent abnormalities encountered were high arched palate (82%), arachnodactyly (71%), and flatfoot (59%). Aortic aneurysm (47%) and ectopic lens (35%) were also seen at the time of diagnosis. According to the 2010 Ghent criteria, the diagnosis of Marfan syndrome could be obtained in 71% of patients after identification of the mutation of the FBN1 gene, whereas only 59% of patients were diagnosed using the older criteria. All organs can be affected during childhood. An early diagnosis is essential in order to set up specific management.
authors.affiliation: Service de génétique médicale, centre hospitalier universitaire d'Estaing, 1, place Lucie-et-Raymond-Aubrac, 63003 Clermont-Ferrand, France. Electronic address: flaffargue@chu-clermontferrand.fr.
authors.forename: F
authors.initials: F
authors.lastname: Laffargue
authors.affiliation: Service de pédiatrie, hôpital de la Mère et de l'Enfant, 8, avenue Dominique-Larrey, 87042 Limoges, France.
authors.forename: A
authors.initials: A
authors.lastname: Lienhardt-Roussie
authors.affiliation: Service de génétique médicale, centre hospitalier universitaire de Pellegrin, place Amélie-Raba-Léon, 33076 Bordeaux, France.
authors.forename: D
authors.initials: D
authors.lastname: Lacombe
authors.affiliation: Service de génétique médicale, centre hospitalier universitaire de Pellegrin, place Amélie-Raba-Léon, 33076 Bordeaux, France.
authors.forename: M-A
authors.initials: MA
authors.lastname: Delrue
mesh_terms: D001014:Aortic Aneurysm / Q000209:etiology; D054119:Arachnodactyly / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D004479:Ectopia Lentis / Q000209:etiology; D019066:Facies; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D005413:Flatfoot / Q000209:etiology; D005660:Funnel Chest / Q000209:etiology; D006801:Humans; D007223:Infant; D007593:Joint Instability / Q000209:etiology; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis* / Q000235:genetics; D008840:Microfilament Proteins / Q000235:genetics; D009154:Mutation; D010159:Palate / Q000002:abnormalities; D012189:Retrospective Studies; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines